MCID: PYR016
MIFTS: 29

Pyridoxine Deficiency

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Pyridoxine Deficiency

MalaCards integrated aliases for Pyridoxine Deficiency:

Name: Pyridoxine Deficiency 20 54 71 32
Vitamin Deficiency, B6 20
Vitamin B 6 Deficiency 71
Vitamin B6 Deficiency 20

Classifications:



External Ids:

ICD10 32 E53.1
UMLS 71 C0936215 C1527330

Summaries for Pyridoxine Deficiency

MalaCards based summary : Pyridoxine Deficiency, also known as vitamin deficiency, b6, is related to pyridoxine deficiency anemia and pyridoxamine 5-prime-phosphate oxidase deficiency. An important gene associated with Pyridoxine Deficiency is SHMT2 (Serine Hydroxymethyltransferase 2), and among its related pathways/superpathways is Folate Metabolism. The drugs Methionine and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, cortex and myeloid.

Wikipedia : 74 Vitamin B6 is one of the B vitamins, and thus an essential nutrient. The term refers to a group of... more...

Related Diseases for Pyridoxine Deficiency

Diseases related to Pyridoxine Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 pyridoxine deficiency anemia 11.3
2 pyridoxamine 5-prime-phosphate oxidase deficiency 11.2
3 uremia 10.3
4 carpal tunnel syndrome 10.2
5 epilepsy, pyridoxine-dependent 10.2
6 polyneuropathy 10.2
7 deficiency anemia 10.1
8 parkinson disease, late-onset 10.1
9 homocysteinemia 10.1
10 urolithiasis 10.1
11 iron metabolism disease 10.1
12 skin disease 10.1
13 pellagra 10.1
14 sideroblastic anemia 10.1
15 porphyria 10.1
16 peripheral nervous system disease 10.1
17 encephalopathy 10.1
18 seizure disorder 10.1
19 alcohol dependence 10.0
20 papillomatosis, confluent and reticulated 10.0
21 riboflavin deficiency 10.0
22 status epilepticus 10.0
23 neuropathy 10.0
24 audiogenic seizures 10.0
25 atherosclerosis susceptibility 10.0
26 bladder cancer 10.0
27 cleft palate, isolated 10.0
28 acrodermatitis enteropathica, zinc-deficiency type 10.0
29 anemia, hypochromic microcytic, with iron overload 1 10.0
30 monosodium glutamate sensitivity 10.0
31 hemochromatosis, type 1 10.0
32 hyperprolinemia, type ii 10.0
33 immune deficiency disease 10.0
34 myelofibrosis 10.0
35 proteasome-associated autoinflammatory syndrome 1 10.0
36 sickle cell anemia 10.0
37 dravet syndrome 10.0
38 membranous nephropathy 10.0
39 exanthem 10.0
40 hypochromic microcytic anemia 10.0
41 angular cheilitis 10.0
42 omphalocele 10.0
43 hyperprolinemia 10.0
44 interstitial nephritis 10.0
45 microcytic anemia 10.0
46 nephrotic syndrome 10.0
47 common variable immunodeficiency 10.0
48 nephrocalcinosis 10.0
49 megaloblastic anemia 10.0
50 kwashiorkor 10.0

Graphical network of the top 20 diseases related to Pyridoxine Deficiency:



Diseases related to Pyridoxine Deficiency

Symptoms & Phenotypes for Pyridoxine Deficiency

Drugs & Therapeutics for Pyridoxine Deficiency

Drugs for Pyridoxine Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methionine Approved, Nutraceutical Phase 2, Phase 3 63-68-3 6137
2
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
3
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 65-23-6 1054
4 Vitamin B 6 Phase 2, Phase 3
5 Vitamin B Complex Phase 2, Phase 3
6 Micronutrients Phase 2, Phase 3
7 Trace Elements Phase 2, Phase 3
8 Contraceptives, Oral, Combined Phase 2, Phase 3
9 Contraceptive Agents Phase 2, Phase 3
10 Contraceptives, Oral Phase 2, Phase 3
11 Vitamins Phase 2, Phase 3
12 Folate Phase 2, Phase 3
13 Vitamin B9 Phase 2, Phase 3
14 Nutrients Phase 2, Phase 3
15
Serine Investigational, Nutraceutical Phase 2, Phase 3 56-45-1 5951
16
Pyridoxal Experimental, Nutraceutical Phase 2, Phase 3 66-72-8 1050
17
Leucine Investigational, Nutraceutical Phase 2, Phase 3 61-90-5 6106
18
Levoleucovorin Approved, Investigational 68538-85-2 149436
19
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
20
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
21
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
22
Cobalamin Experimental 13408-78-1 6857388
23 Neurotransmitter Agents
24 Hematinics
25 Vitamin B 12
26 Vitamin B12

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vitamin B6 Effects on One-Carbon Metabolism Completed NCT01128244 Phase 2, Phase 3
2 Vitamin B6 Dependence of One-Carbon Metabolism Completed NCT00877812
3 The Vitamin B Status in Type 2 Diabetes (VITA) Study Completed NCT03447275
4 Pilot Study for the Evaluation of the Effectiveness of Natural Versus Synthetic Vitamin B Complexes in Humans. Completed NCT03444155

Search NIH Clinical Center for Pyridoxine Deficiency

Genetic Tests for Pyridoxine Deficiency

Anatomical Context for Pyridoxine Deficiency

MalaCards organs/tissues related to Pyridoxine Deficiency:

40
Liver, Cortex, Myeloid, Adrenal Cortex, Pituitary, Thymus, Pancreas

Publications for Pyridoxine Deficiency

Articles related to Pyridoxine Deficiency:

(show top 50) (show all 417)
# Title Authors PMID Year
1
The utility of screening for pyridoxine deficiency in a first episode of psychosis. 61
32499050 2020
2
The regulatory effects of pyridoxine deficiency on the grass carp (Ctenopharyngodon idella) gill barriers immunity, apoptosis, antioxidant, and tight junction challenged with Flavobacterium columnar. 61
32707298 2020
3
Pyridoxine Deficiency Exacerbates Neuronal Damage after Ischemia by Increasing Oxidative Stress and Reduces Proliferating Cells and Neuroblasts in the Gerbil Hippocampus. 61
32759679 2020
4
Effects of Pyridoxine Deficiency on Hippocampal Function and Its Possible Association with V-Type Proton ATPase Subunit B2 and Heat Shock Cognate Protein 70. 61
32344819 2020
5
Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis. 61
31884946 2019
6
[A microcytic sideroblastic anemia successfully treated with B6 vitamin]. 61
31133329 2019
7
Metabolic etiologies in West syndrome. 61
29881795 2018
8
Low Alanine Aminotransferase Levels in the Elderly Population: Frailty, Disability, Sarcopenia, and Reduced Survival. 61
28633440 2018
9
Dietary pyridoxine deficiency reduced growth performance and impaired intestinal immune function associated with TOR and NF-κB signalling of young grass carp (Ctenopharyngodon idella). 61
28951222 2017
10
Pyridoxine Deficiency After Solid Organ Transplant. 61
29187089 2017
11
Nutrients and Neurology. 61
28570331 2017
12
Effects of levodopa/carbidopa intestinal gel versus oral levodopa/carbidopa on B vitamin levels and neuropathy. 61
28523235 2017
13
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. 61
27912044 2016
14
Impact of the Increased Recommended Dosage of Isoniazid on Pyridoxine Levels in Children and Adolescents. 61
26862674 2016
15
Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations. 61
26656780 2016
16
Isoniazid exposure and pyridoxine levels in human immunodeficiency virus associated distal sensory neuropathy. 61
26467583 2015
17
Pyridoxine deficiency in adult patients with status epilepticus. 61
26418265 2015
18
Effects of pyridoxine on growth performance and plasma aminotransferases and homocysteine of white pekin ducks. 61
25358368 2014
19
Revisiting the evidence for neuropathy caused by pyridoxine deficiency and excess. 61
25137514 2014
20
Seizures caused by pyridoxine (vitamin B6) deficiency in adults: A case report and literature review. 61
25343127 2014
21
Biochemical Evaluation of Patients of Alcoholic Liver Disease and Non-alcoholic Liver Disease. 61
24478554 2014
22
Therapeutic approach to epileptic encephalopathies. 61
24571117 2013
23
Transcriptional remodelling in response to changing copper levels in the Wilson and Menkes disease model of Saccharomyces cerevisiae. 61
24056782 2013
24
Vitamin B6: deficiency diseases and methods of analysis. 61
24035968 2013
25
Congenital cataract in a child with pyridoxine-dependent epilepsy. 61
23602455 2013
26
Epilepsy in inborn errors of metabolism. 61
23622201 2013
27
B-vitamin deficiency in patients treated with antiepileptic drugs. 61
22658435 2012
28
Treatment of severe neutropenia with high-dose pyridoxine in a patient with chronic graft versus host disease and squamous cell carcinoma: a case report. 61
21838907 2011
29
Vitamin B6 deficiency: a potential cause of refractory seizures in adults. 61
21378258 2011
30
Partial status epilepticus induced by hypocupremia in a patient with Wilson's disease. 61
20732822 2010
31
Simultaneous chemometric determination of pyridoxine hydrochloride and isoniazid in tablets by multivariate regression methods. 61
20645279 2010
32
The effects of pyridoxine deficiency and supplementation on hematological profiles, lymphocyte function, and hepatic cytochrome P450 in B6C3F1 mice. 61
19637937 2009
33
Epileptic status refractory to conventional treatment caused by vitamin B6 deficiency. 61
19240731 2009
34
Pyridoxine-related metabolite concentrations in normal and Down syndrome amniotic fluid. 61
18417989 2008
35
Optimizing therapy of seizures in patients with renal or hepatic dysfunction. 61
17190918 2006
36
Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats. 61
16151899 2005
37
Confusion associated with isoniazid-induced pyridoxine deficiency. 61
15546832 2004
38
Effect of pyridoxine deficiency on the structural and functional development of hippocampus. 61
15648402 2004
39
Instability of the apo form of aromatic L-amino acid decarboxylase in vivo and in vitro: implications for the involvement of the flexible loop that covers the active site. 61
14999007 2004
40
Electrocardiographic changes due to pyridoxine deficiency. 61
12765460 2003
41
Individual susceptibility to Wernicke-Korsakoff syndrome and alcoholism-induced cognitive deficit: impaired thiamine utilization found in alcoholics and alcohol abusers. 61
12454526 2002
42
Biochemical deficiency of pyridoxine does not affect interleukin-2 production of lymphocytes from patients with Sjögren's syndrome. 61
12428174 2002
43
Methods for measuring sulfur amino acid metabolism. 61
12172474 2002
44
Management of epilepsy in pediatrics and geriatrics. 61
12296546 2002
45
Hyperhomocysteinemia is associated with low plasma pyridoxine levels in children with sickle cell disease. 61
12142786 2002
46
[The pathogenesis of diabetic and hepatic neuropathies]. 61
11778353 2001
47
Vitamin B(6) therapy does not improve hematocrit in hemodialysis patients supplemented with iron and erythropoietin. 61
11287776 2001
48
High-dose pyridoxine as an 'anti-stress' strategy. 61
10859691 2000
49
Fits, pyridoxine, and hyperprolinaemia type II. 61
10685929 2000
50
[Pyridoxine deficiency and dependency]. 61
11031901 2000

Variations for Pyridoxine Deficiency

Expression for Pyridoxine Deficiency

Search GEO for disease gene expression data for Pyridoxine Deficiency.

Pathways for Pyridoxine Deficiency

Pathways related to Pyridoxine Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.96 SHMT2 GSR

GO Terms for Pyridoxine Deficiency

Cellular components related to Pyridoxine Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.62 SHMT2 GSR

Sources for Pyridoxine Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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